Abstract

Esophageal squamous cell carcinoma (ESCC) is a malignant tumor that commonly occurs worldwide. Usually, Asia, especially China, has a high incidence of esophageal cancer. ESCC often has a poor outcome because of a late diagnosis and lack of effective treatments.To build foundations for the early diagnosis and treatment of ESCC, we used the gene expression datasets GSE20347 and GSE17351 from the GEO database and a private dataset to uncover differentially expressed genes (DEGs) and key genes in ESCC. Notably, we found that replication factor C subunit 4 (RFC4) and guanine monophosphate synthase (GMPS) were upregulated but have been rarely studied in ESCC. In particular, to the best of our knowledge, our study is the first to explore GMPS and ESCC. Furthermore, we found that high levels of RFC4 and GMPS expression may result from an increase in DNA copy number alterations. Furthermore, RFC4 and GMPS were both upregulated in the early stage and early nodal metastases of esophageal carcinoma. The expression of RFC4 was strongly correlated with GMPS. In addition, we explored the relationship between RFC4 and GMPS expression and tumor-infiltrating immune cells (TILs) in esophageal carcinoma. The results showed that the levels of RFC4 and GMPS increased with a decrease in some tumor-infiltrating cells. Upregulated RFC4 and GMPS with high TILs indicate a worse prognosis.In summary, our study shows that RFC4 and GMPS have potential as biomarkers for the early diagnosis of ESCC and may played a crucial role in the process of tumor immunity in ESCC.

Highlights

  • Esophageal carcinoma is a common malignant tumor worldwide [1, 2]

  • Using GEO2R online tools and Venn diagram software, the results showed that in total, 64 genes were identified as differentially expressed genes (DEGs) (Figure 1B, 1C), including 22 downregulated genes and 42 upregulated genes in the Esophageal squamous cell carcinoma (ESCC) tissues (Supplementary Table 1)

  • By examining the data, we found that replication factor C subunit 4 (RFC4) and guanine monophosphate synthase (GMPS) have rarely been reported in ESCC

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Summary

Introduction

Esophageal carcinoma is a common malignant tumor worldwide [1, 2]. This cancer ranked seventh in cancer incidence and sixth in mortality overall in 2018 [3].Most cases of esophageal cancer, especially in Eastern Europe and Asia, are squamous cell carcinoma [3,4,5]. Esophageal carcinoma is a common malignant tumor worldwide [1, 2]. This cancer ranked seventh in cancer incidence and sixth in mortality overall in 2018 [3]. Most cases of esophageal cancer, especially in Eastern Europe and Asia, are squamous cell carcinoma [3,4,5]. Tobacco and alcohol consumption are major risk factors for esophageal carcinoma [6, 7]. One of the main reasons is that esophageal cancer is usually diagnosed at a late stage [10]. The lack of early diagnosis markers remains a great challenge for esophageal carcinoma treatment and prognosis [13]

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